| Facilitating the Laboratory Diagnosis of α1-Antitrypsin Deficiency. | |
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MedLine Citation:
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PMID: 23355203 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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α(1)-Antitrypsin (AAT) deficiency leads to deterioration of the lungs that can be prevented with diagnosis and treatment. Isoelectric focusing (IEF) electrophoresis is the current biochemical gold standard for detecting AAT deficiency variants but involves complex interpretation. Variant AAT samples were collected over a 2-year period. Stability of AAT for phenotype determination was assessed in whole blood, dried blood spots, and dried serum spots. A compendium displaying 13 common and 5 rare AAT phenotypes was created, and a detailed methodology describing how to recognize AAT banding patterns and interpret a rare phenotype accompanied these visual data. AAT was stable for IEF phenotype analysis for at least 1 week in whole blood and for 24 hours on dried serum spots. In conclusion, a reference compendium of known AAT phenotypes was established that can serve as a resource for interpreting AAT phenotypes. |
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Authors:
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Dina N Greene; M C Elliott-Jelf; Joely A Straseski; David G Grenache |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: American journal of clinical pathology Volume: 139 ISSN: 1943-7722 ISO Abbreviation: Am. J. Clin. Pathol. Publication Date: 2013 Feb |
Date Detail:
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Created Date: 2013-01-28 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0370470 Medline TA: Am J Clin Pathol Country: United States |
Other Details:
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Languages: eng Pagination: 184-91 Citation Subset: AIM; IM |
Affiliation:
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The Permanente Medical Group Regional Laboratories, 1725 Eastshore Highway, Berkeley, CA 94610; email: dina.n.greene@kp.org. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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